Incidental Mutation 'R6458:Acot8'
ID 517418
Institutional Source Beutler Lab
Gene Symbol Acot8
Ensembl Gene ENSMUSG00000017307
Gene Name acyl-CoA thioesterase 8
Synonyms Pte1, PTE-2
MMRRC Submission 044593-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R6458 (G1)
Quality Score 124.008
Status Validated
Chromosome 2
Chromosomal Location 164634685-164646802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164646655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 28 (V28A)
Ref Sequence ENSEMBL: ENSMUSP00000017451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017451] [ENSMUST00000052107] [ENSMUST00000103094] [ENSMUST00000134611]
AlphaFold P58137
Predicted Effect possibly damaging
Transcript: ENSMUST00000017451
AA Change: V28A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000017451
Gene: ENSMUSG00000017307
AA Change: V28A

DomainStartEndE-ValueType
Pfam:Acyl_CoA_thio 38 132 4.6e-9 PFAM
Pfam:4HBT_3 45 255 8.8e-30 PFAM
Pfam:Acyl_CoA_thio 180 253 2.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052107
SMART Domains Protein: ENSMUSP00000050970
Gene: ENSMUSG00000045822

DomainStartEndE-ValueType
low complexity region 436 453 N/A INTRINSIC
low complexity region 474 489 N/A INTRINSIC
ZnF_PMZ 546 573 2.09e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000103094
AA Change: V28A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099383
Gene: ENSMUSG00000017307
AA Change: V28A

DomainStartEndE-ValueType
Pfam:Acyl_CoA_thio 39 132 5e-9 PFAM
Pfam:4HBT_3 45 309 2.7e-44 PFAM
Pfam:Acyl_CoA_thio 180 308 5.3e-30 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000134611
AA Change: V28A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133718
Gene: ENSMUSG00000017307
AA Change: V28A

DomainStartEndE-ValueType
low complexity region 79 113 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136767
Meta Mutation Damage Score 0.3829 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.3%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak1 T A 2: 32,520,385 (GRCm39) M61K probably damaging Het
Akap12 T C 10: 4,305,148 (GRCm39) S653P probably damaging Het
Anapc4 G A 5: 53,021,895 (GRCm39) R659H possibly damaging Het
Arel1 T C 12: 84,987,159 (GRCm39) N86D possibly damaging Het
Bco1 A G 8: 117,854,245 (GRCm39) D390G possibly damaging Het
Ccr1l1 A T 9: 123,778,203 (GRCm39) D81E probably damaging Het
Chd1 A T 17: 15,950,864 (GRCm39) N185I probably benign Het
Clca4b T G 3: 144,617,088 (GRCm39) N854T possibly damaging Het
Col4a4 T C 1: 82,433,546 (GRCm39) T1466A unknown Het
Cxcr4 T C 1: 128,516,831 (GRCm39) I277V probably benign Het
Dgkq A G 5: 108,802,242 (GRCm39) V441A possibly damaging Het
Dnah10 G T 5: 124,886,333 (GRCm39) L3030F probably damaging Het
Epg5 T A 18: 77,991,469 (GRCm39) D55E probably benign Het
Ermap A T 4: 119,035,337 (GRCm39) N550K probably damaging Het
Fnbp1l A T 3: 122,350,089 (GRCm39) I374N probably damaging Het
Gadl1 T A 9: 115,870,070 (GRCm39) *479K probably null Het
Gm5591 T A 7: 38,218,459 (GRCm39) T805S probably damaging Het
H2-T3 A T 17: 36,497,911 (GRCm39) M334K possibly damaging Het
Ihh C T 1: 74,985,601 (GRCm39) A295T probably damaging Het
Il18r1 T A 1: 40,530,342 (GRCm39) Y356* probably null Het
Lingo3 A G 10: 80,671,150 (GRCm39) V260A probably damaging Het
Lrp2 T G 2: 69,335,500 (GRCm39) M1408L probably benign Het
Mical1 C A 10: 41,360,731 (GRCm39) H657N probably benign Het
Mpp2 T A 11: 101,971,595 (GRCm39) M12L probably benign Het
Muc16 A T 9: 18,553,017 (GRCm39) D4425E probably benign Het
Muc4 T A 16: 32,579,694 (GRCm39) probably null Het
Myt1l T A 12: 29,945,298 (GRCm39) F1021Y unknown Het
Nbas T C 12: 13,338,750 (GRCm39) S197P probably damaging Het
Nckap1 T C 2: 80,342,893 (GRCm39) probably null Het
Nek1 T G 8: 61,553,046 (GRCm39) V903G probably benign Het
Or14c43 A G 7: 86,114,888 (GRCm39) I90V probably damaging Het
Or1e18-ps1 T G 11: 73,279,517 (GRCm39) S112R probably damaging Het
Or4p22 T A 2: 88,317,562 (GRCm39) I162N possibly damaging Het
Or8b40 T C 9: 38,027,350 (GRCm39) V91A possibly damaging Het
Ppm1j T C 3: 104,688,560 (GRCm39) V53A probably benign Het
Ralgapb T A 2: 158,286,540 (GRCm39) D328E probably damaging Het
Rgma T A 7: 73,059,442 (GRCm39) V88E probably damaging Het
Slc30a6 A G 17: 74,730,108 (GRCm39) T333A probably damaging Het
Spr T C 6: 85,114,039 (GRCm39) probably null Het
Srek1 A T 13: 103,880,076 (GRCm39) V494E probably benign Het
Ston1 A T 17: 88,942,731 (GRCm39) T46S probably benign Het
Stox2 T C 8: 47,645,079 (GRCm39) K858E possibly damaging Het
Thoc1 G A 18: 9,993,333 (GRCm39) R564Q probably benign Het
Thoc2l A T 5: 104,670,169 (GRCm39) I1564L probably benign Het
Tmc5 T A 7: 118,244,539 (GRCm39) N472K probably damaging Het
Ttc41 A G 10: 86,594,134 (GRCm39) T856A possibly damaging Het
Ttn A T 2: 76,608,854 (GRCm39) W17721R probably damaging Het
Vmn1r69 A G 7: 10,314,365 (GRCm39) I43T probably benign Het
Vmn2r56 T A 7: 12,427,984 (GRCm39) I761F probably damaging Het
Zfp109 T C 7: 23,927,870 (GRCm39) D521G probably benign Het
Zfp516 A G 18: 83,005,475 (GRCm39) H793R probably benign Het
Zfp800 A T 6: 28,244,215 (GRCm39) I250N probably damaging Het
Zpbp T A 11: 11,358,538 (GRCm39) Y243F probably damaging Het
Other mutations in Acot8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00965:Acot8 APN 2 164,646,735 (GRCm39) start codon destroyed probably null 0.95
Etherial UTSW 2 164,646,655 (GRCm39) missense possibly damaging 0.93
Evaporated UTSW 2 164,636,979 (GRCm39) missense probably damaging 1.00
R1655:Acot8 UTSW 2 164,645,028 (GRCm39) missense probably benign 0.00
R1980:Acot8 UTSW 2 164,636,964 (GRCm39) missense probably damaging 1.00
R5049:Acot8 UTSW 2 164,641,610 (GRCm39) intron probably benign
R5305:Acot8 UTSW 2 164,637,685 (GRCm39) missense probably benign 0.00
R6145:Acot8 UTSW 2 164,644,985 (GRCm39) missense probably benign 0.44
R6261:Acot8 UTSW 2 164,636,979 (GRCm39) missense probably damaging 1.00
R8308:Acot8 UTSW 2 164,646,663 (GRCm39) missense probably benign 0.30
R9059:Acot8 UTSW 2 164,634,829 (GRCm39) missense probably benign 0.00
R9239:Acot8 UTSW 2 164,646,608 (GRCm39) critical splice donor site probably null
Z1088:Acot8 UTSW 2 164,641,733 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCTTCTAACTGCAGCAGAGC -3'
(R):5'- TCTGAAATTGACAAGCACATCGAC -3'

Sequencing Primer
(F):5'- GAGCTTGCATCCAACTCTTAAC -3'
(R):5'- CAATCACAATCTGCGTCTCG -3'
Posted On 2018-05-21